Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517105
rs1057517105
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Novel GAA mutations in patients with Pompe disease. 25681614

2015
dbSNP: rs1057517105
rs1057517105
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations. 24269976

2014
dbSNP: rs1057517105
rs1057517105
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. 22252923

2012